{"context":{"query":">>mondo>>clinvar","source_dataset":"mondo","target_dataset":"clinvar"},"stats":{"queried":1,"total":100,"mapped":1},"pagination":{"has_next":true,"next_token":"-1[]MONDO:0004975,73,MONDO:0004975,144,1]["},"schema":"id|name|type|germline_classification|gene_symbol|review_status|chromosome","mappings":[{"input":"MONDO:0004975","source":"MONDO:0004975|Alzheimer disease","targets":["10|NM_000410.4(HFE):c.187C>G (p.His63Asp)|single nucleotide variant|Conflicting classifications of pathogenicity; other|HFE|criteria provided, conflicting classifications|6","1005334|NM_000484.4(APP):c.302G>A (p.Gly101Asp)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1005544|NM_000484.4(APP):c.1034-6C>G|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1021854|NM_000484.4(APP):c.1684G>A (p.Val562Ile)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1026799|NM_000484.4(APP):c.1916C>A (p.Pro639His)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1028288|NM_000484.4(APP):c.917G>A (p.Arg306His)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1028848|NM_000603.5(NOS3):c.1052C>T (p.Ala351Val)|single nucleotide variant|Uncertain significance|NOS3|criteria provided, single submitter|7","1035036|NM_000484.4(APP):c.1123G>A (p.Val375Ile)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1038313|NM_000484.4(APP):c.46C>T (p.Arg16Trp)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1082481|NM_000484.4(APP):c.186C>T (p.Cys62=)|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","11|NM_000410.4(HFE):c.193A>T (p.Ser65Cys)|single nucleotide variant|Conflicting classifications of pathogenicity|HFE|criteria provided, conflicting classifications|6","1102353|NM_000484.4(APP):c.44C>T (p.Ala15Val)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1110217|NM_000484.4(APP):c.1909+9C>T|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1113753|NM_000484.4(APP):c.1722T>C (p.Asp574=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1117397|NC_000021.9:g.26171301C>T|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1121997|NM_000484.4(APP):c.1827G>C (p.Val609=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1130889|NM_000484.4(APP):c.1137C>G (p.Leu379=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1132106|NM_000484.4(APP):c.2212-9_2212-6del|Deletion|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1156848|NC_000021.9:g.26171246G>A|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1158416|NM_000484.4(APP):c.735C>T (p.Asp245=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1159952|NM_000484.4(APP):c.462C>G (p.Ala154=)|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1170744|NM_000484.4(APP):c.663-7T>C|single nucleotide variant|Benign/Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1178341|NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)|single nucleotide variant|Conflicting classifications of pathogenicity|PSEN1|criteria provided, conflicting classifications|14","1184625|Single allele|Duplication|Pathogenic|ADAMTS1|criteria provided, single submitter|21","127268|NC_000021.7:g.13636378_28138533dup|Duplication|Pathogenic|CYYR1|no assertion criteria provided|21","1305617|NM_000484.4(APP):c.2253G>C (p.Lys751Asn)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1307352|NM_000484.4(APP):c.1651G>A (p.Val551Met)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1346978|NM_000484.4(APP):c.819CAC[9] (p.Thr279_Thr280dup)|Microsatellite|Uncertain significance|APP|criteria provided, single submitter|21","1350241|NM_000484.4(APP):c.1091-18T>G|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1353302|NC_000021.8:g.(?_27251861)_(27544138_?)dup|Duplication|Pathogenic|APP|criteria provided, single submitter|21","1354243|NM_000484.4(APP):c.1775C>T (p.Ala592Val)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1357546|NM_000484.4(APP):c.1748A>G (p.Glu583Gly)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1357645|NM_000484.4(APP):c.19C>G (p.Leu7Val)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1359826|NM_000484.4(APP):c.2020G>C (p.Glu674Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1364178|NM_000484.4(APP):c.533A>G (p.Lys178Arg)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1364778|NM_000484.4(APP):c.735_746del (p.Asp245_Asp248del)|Deletion|Uncertain significance|APP|criteria provided, single submitter|21","1371948|NM_000484.4(APP):c.1210G>C (p.Glu404Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1372949|NM_000484.4(APP):c.1580G>A (p.Arg527Gln)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1377814|NM_000484.4(APP):c.1849G>A (p.Asp617Asn)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1387676|NM_000484.4(APP):c.866-3T>C|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1397412|NM_000484.4(APP):c.1454C>T (p.Pro485Leu)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1400176|NM_000484.4(APP):c.1072G>C (p.Ala358Pro)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1409975|NM_000484.4(APP):c.1978A>T (p.Asn660Tyr)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1412556|NM_000484.4(APP):c.1463G>A (p.Arg488His)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1413498|NM_000484.4(APP):c.1402C>T (p.Arg468Cys)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1414335|NM_000484.4(APP):c.1264A>C (p.Asn422His)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1414989|NM_000484.4(APP):c.964G>A (p.Gly322Ser)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1418572|NM_000484.4(APP):c.1076G>A (p.Arg359Gln)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1421584|NM_000484.4(APP):c.1790T>G (p.Leu597Trp)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1434207|NM_000484.4(APP):c.1814A>G (p.Glu605Gly)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1437591|NM_000484.4(APP):c.713AAG[3] (p.Glu241del)|Microsatellite|Uncertain significance|APP|criteria provided, single submitter|21","1440537|NM_000484.4(APP):c.2285A>T (p.Tyr762Phe)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1457308|NM_000484.4(APP):c.2145_2146delinsTG (p.Ile716Val)|Indel|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","1462927|NM_000484.4(APP):c.1190G>A (p.Arg397Lys)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1466111|NM_000484.4(APP):c.865+3A>G|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1472472|NM_000484.4(APP):c.732T>A (p.Asp244Glu)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1480877|NM_000484.4(APP):c.2267G>A (p.Gly756Asp)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1484099|NM_000484.4(APP):c.130C>T (p.His44Tyr)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1491754|NM_000484.4(APP):c.820A>G (p.Thr274Ala)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1496049|NM_000484.4(APP):c.583A>G (p.Asn195Asp)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1498011|NM_000484.4(APP):c.2281A>G (p.Thr761Ala)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1502417|NM_000484.4(APP):c.1754G>A (p.Arg585Lys)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1510800|NC_000021.8:g.(?_27253981)_(27277409_?)del|Deletion|Uncertain significance|APP|criteria provided, single submitter|21","1510801|NC_000021.8:g.(?_27462239)_(27542938_?)dup|Duplication|Uncertain significance|APP|criteria provided, single submitter|21","1519517|NM_000484.4(APP):c.1658C>T (p.Ala553Val)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1521134|NM_000484.4(APP):c.1406G>A (p.Arg469His)|single nucleotide variant|Uncertain significance|APP|criteria provided, multiple submitters, no conflicts|21","1522518|NM_000484.4(APP):c.1450C>T (p.Pro484Ser)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","1525891|NM_000484.4(APP):c.1462C>T (p.Arg488Cys)|single nucleotide variant|Uncertain significance|APP|criteria provided, single submitter|21","1541993|NM_000484.4(APP):c.1224+16C>A|single nucleotide variant|Benign/Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1544635|NM_000484.4(APP):c.1910-7T>C|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1553359|NM_000484.4(APP):c.1137C>T (p.Leu379=)|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1553888|NM_000484.4(APP):c.504C>T (p.Tyr168=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1571568|NM_000484.4(APP):c.2241C>T (p.Arg747=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1575866|NM_000484.4(APP):c.1164T>C (p.His388=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1577539|NM_000484.4(APP):c.58-11T>G|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1587532|NM_000484.4(APP):c.786C>T (p.Tyr262=)|single nucleotide variant|Benign/Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1589890|NM_000484.4(APP):c.1467C>T (p.His489=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1591970|NM_000484.4(APP):c.1809C>T (p.Thr603=)|single nucleotide variant|Benign/Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1594048|NM_000484.4(APP):c.1491T>C (p.Tyr497=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1594875|NM_000484.4(APP):c.355+16G>A|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1600556|NM_000484.4(APP):c.1458+19G>A|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1606633|NM_000484.4(APP):c.1896C>T (p.Asn632=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1615286|NM_000484.4(APP):c.417G>A (p.Glu139=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1622700|NM_000484.4(APP):c.225+13C>T|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1623260|NM_000484.4(APP):c.2139G>A (p.Ala713=)|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1623417|NM_000484.4(APP):c.1033+19G>A|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1631007|NM_000484.4(APP):c.225+19C>G|single nucleotide variant|Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1631851|NM_000484.4(APP):c.57+16C>T|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1636017|NM_000484.4(APP):c.1860G>A (p.Pro620=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1636756|NM_000484.4(APP):c.1225-11T>A|single nucleotide variant|Benign|APP|criteria provided, single submitter|21","1643179|NM_000484.4(APP):c.1458+18C>T|single nucleotide variant|Benign/Likely benign|APP|criteria provided, multiple submitters, no conflicts|21","1644359|NM_000484.4(APP):c.1963+11C>T|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1644632|NM_000484.4(APP):c.1224+20C>T|single nucleotide variant|Benign|APP|criteria provided, multiple submitters, no conflicts|21","1646719|NM_000484.4(APP):c.891G>A (p.Thr297=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1661516|NM_000484.4(APP):c.1122C>T (p.Ala374=)|single nucleotide variant|Likely benign|APP|criteria provided, single submitter|21","1695024|NM_000484.4(APP):c.736G>A (p.Glu246Lys)|single nucleotide variant|Conflicting classifications of pathogenicity|APP|criteria provided, conflicting classifications|21","17864|NM_000041.4(APOE):c.388T>C (p.Cys130Arg)|single nucleotide variant|Conflicting classifications of pathogenicity; other; risk factor|APOE|criteria provided, conflicting classifications|19","18087|NM_000484.4(APP):c.2077G>C (p.Glu693Gln)|single nucleotide variant|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","18088|NM_000484.4(APP):c.2149G>A (p.Val717Ile)|single nucleotide variant|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21","18089|NM_000484.4(APP):c.2149G>T (p.Val717Phe)|single nucleotide variant|Pathogenic|APP|criteria provided, multiple submitters, no conflicts|21"]}]}